Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1223829978
rs1223829978
CYB5R3
2 0.925 0.040 22 42631378 missense variant C/A;T snv 1.3E-05 0.010 1.000 1 2006 2006
dbSNP: rs1391776671
rs1391776671
PSEN1
2 0.925 0.040 14 73192849 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs144071404
rs144071404
CYB5R3
2 0.925 0.040 22 42619922 missense variant C/T snv 1.0E-04 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs771453342
rs771453342
CYB5R3
2 0.925 0.040 22 42627380 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009